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Democracy Now

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San Francisco, CA, USA

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Robert Hatcher 12, Us 11, Edward Mccabe 11, Wayne Grody 4, Jane Davis 4, Dr. Mccabe 3, California 3, Cystic 3, Harold Varmus 3, Daniel Mishell 3, Alexandra Levine 3, David Bennett 3, Karen Merten 3, Gonorrhea 2, Hepatitis 2, Huntington 2, Online 2, Fibrosis 2, Herpes 2, Atlanta 2,
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  LINKTV    Democracy Now    News/Business. Independent global news hour featuring news  
   headlines, in depth interviews and investigative reports....  

    February 21, 2013
    3:00 - 3:59pm PST  

narrator: all thworld's creatures are programmed to reproduce. it's built into the genes but unlike most species, humans engage in sex for reasons other than producing offspring. under the right circumstances, an intimate relationship can be a pleasurable and fulfilling experience. under the wrong circumstances and with the wrong partner, it could change your life forever.
that loving feeling-- in the pleasure of the moment, how could anyone imagine that such intimacy could have negative overtones? james curran: what are the risks of sexual behavior? well, of course, they include hiv. and your risks may vary but they also include unwanted pregnancy, and they include debilitating or life threatening std's, such as chlamydia infection or syphilis or gonorrhea, herpes, or even cervical cancer caused by papilloma virus. and they also include the opportunity to have a lifelong happy, fulfilled sexual life. decisions regarding sexual behavior begin at a very young age. i think probably the biggest problem we have
in the urban environment is that young children, both girls and boys become sexually active at way too young an age. we talk about how to prevent sexually transmitted disease, but we won't say in middle school, "just say no to sex." robert hatcher: i think that parents and children must be willing to say that if you choose to be sexually active, here's what you must do to be responsible so you're not hurting someone else, and you're not hurting yourself. we cannot say that word. and you know what's amazing? we do with alcohol. we say, "if you drink, remember, don't drive." we don't think that way in terms of infection control. isn't that sad? and this is where we really go wrong with teens. we try to tell them immediately that we know better for them, and we really don't what their experience is like. we don't listen to them. we don't know what they're hearing. we don't know what they think their options are before we begin to tell them,
and if you are listening and you understand what they think their options are, then you can help them to broaden their options. but many times teens don't think they have any choice. they must do, in order to have friends, they must wear this, they must do this thing... you know, they must engage in this behavior. or if they want to have a boyfriend, or a girlfriend, they have to do this or that and the other. and in their minds, this is the option. and so, you know, in order for them to relax and not be threatened that we are trying to take their control away, we need to listen, and we need to work within the confines of what they're telling us. so i think we have to have young people growing up understanding the risks, not focusing a single risk, but also understanding the benefits. and we have to have a society which supports the correct choices. the reality is that many teenagers today are engaging in sex,
many without protection of any type. robert hatcher: what that often is, is opportunity and excitement joining together, and where people decide we're going to do it when actually it would be wiser that night not to do it until they had their contraception lined up. half the pregnancies in the united states today are unwanted or unplanned and a fourth of all pregnancies in the united states today end up in elective abortion. i think that's a big problem. four in ten young women have at least one unintended pregnancy before the age of 20. it wasn't really expected but then again, you now, i wasn't really using any protection so i knew it was going to happen eventually. i didn't think i could have kids, so i didn't think it was going to happen to me. yeah, i was confused. i didn't know what i was going to do. but i decided to have her-- we decided to have her, me and my boyfriend. these young women are part of project cradle, a program designed to help young expectant mothers
who have nowhere else to turn. and it was started in hollywood where we found-- and the l.a. free clinic where it is run out of, found, that there was a real demand for a comprehensive, perinatal program for adolescents. we've seen some patents as young as 15 years old. many of the young women have few resources, and little support from their families or their child's father. jane davis: a lot of these women have been abused by either their parents, by their significant others, the supposed father of the pregnancy. they're battered... and alone in this world. so in some ways, the social problem that some of these young women face are even more difficult than the medical ones.
my family's back in europe-- in finland, sweden and greece, so, otherwise, i'm pretty much on my own. i'd rather have it that way, actually, because i like to be on my own-- kind of do my own thing. as faraway from family restraints as possible. i was just kind of scared of what i was going to tell my parents. i didn't tell them until i was about six months, so... and i didn't tell them, my mom actually found out. i couldn't see myself having a baby. i was like in denial. probably like in the fourth month, i was like, more like, yeah, i'm going to have a baby. an unintended pregnancy can have a profound effect on a young woman's life. a little bit scared because, you know, i'm used to doing whatever i want to, going wherever i want to, but now it's going to change. i'm actually happy because i'm so scattered and it's going to make me, you know, force me to focus actually, and pretty much decide what i want to do with my life.
before i found out i was pregnant, i was in school. and during my pregnancy, i was in school up until two weeks before i delivered. i go back in the fall. and it's probably going to be a little bit hard having a baby and going to school. for many young mothers, 14, 15, 16 years old, the idea of having a baby may seem appealing at first. but the excitement is short lived. i'm the one who sees the babies that are the product of this early sexual encounter, and these children are the babies of no one. mom goes back to school or drops out of school-- a lose-lose situation for the child. the child gets raised by one grandmother or another. grandma really didn't want this. she's raised her family. so then the child goes from one daycare to the next. these are the lost children of our society. project cradle offers support throughout pregnancy
and into the beginning weeks of parenthood. jane davis: that's really the beauty of the program. we have some really very committed, dedicated counselors that spend a lot of time speaking to the patients even after the physician visit. they meet with the patient for about 15 to 20 minutes, sometimes even longer than that, and go over the patient's questions about the pregnancy, about breast feeding, about contraception because we really try to-- try to counsel them on contraception even while they're still pregnant. the idea, of course, is to prevent more unintended pregnancies. today's methods of birth control rarely fail. daniel mishell: well when i was in training in the 1950's, the only contraceptives available were the barrier methods, the condom and the diaphragm.
the barrier methods frequently failed and abortion was not legal and there were a large number of unwanted births before oral contraceptives became available. oral contraceptives first came on the market in the 1960's. daniel mishell: that was a huge advance, enabling or empowering women to control their time of reproduction and have more pregnancies planned. and about 80% of u.s. women use oral contraceptives at some time in their lifetime, but most of them stop using it after a year or two to either have another child or concern about side effects. but now we have data on long-term use of oral contraceptives and there appears to be no harm for women to continue to take them through their-- throughout their reproductive life. in addition to providing an effective form of birth control, the pill has other benefits. robert hatcher: after ten years of pill use,
it has an 80% of protective effect against ovarian cancer. now that's the only game we have in town for that cancer because we have-- it's very difficult to detect early. and the protective effect that the pills have against ovarian cancer last for at least 15 years after a woman quits taking the pill. pills have a little bit less, but a very nice protective effect against endometrial cancer, which is cancer of the lining of the uterus. and again, it lasts for a long time after a woman quits taking the pill, if not for her entire lifetime. the incidence of benign breast masses and painful menstrual periods is also reduced. but like any form of medication, the birth control pill may not be for everyone. robert hatcher: the other day i was giving a talk, and the chairman of the ob/gyn department asked about a 20-year-old woman who had had a blood clot, a serious blood clot, and a pulmonary embolism while using pills.
so she cannot use pills again. and she didn't die but that's a very serious complication and it's rare. it's in the range of 2 per 10,000 women per year, so it's pretty rare. the next major advance which occurred about the same time, was the rebirth of intrauterine devices, which are extremely effective, and required only a single act of insertion to be effective for 10 or more years. and the iud's have become smaller and have less problems associated with their insertion or with a woman keeping them in place. robert hatcher: the levonorgestrel iud cuts down the amount of menstrual blood loss 90, 95%, has a dramatic protective effect against endometrial cancer. in recent years, injections and implants have been added to the list of options to be considered.
robert hatcher: depo provera, the three month injection, an excellent, excellent method of birth control and highly effective but it has one of the most-- one of the highest discontinuation rates because it's the method that means you have to come back every three months and there's no method that requires-- it's more rigorous in terms of return visits. norplant is a contraceptive that is implanted just under the skin. robert hatcher: well the norplant advantages are you get five years of contraception and it's looking as though it may be effective for more than five years, maybe up to seven years. you decrease the amount of menstrual blood loss. you decrease the amount of menstrual cramps. you have highly effective contraception with nothing to do on a day-to-day basis or a month-to-month basis. on the bad side, it takes a very minor procedure to put them in, a little bit more extensive procedure to get them out.
daniel mishell: so now the american woman has four extremely effective reversible methods of contraception: the pill; the iud; the injections, and the implants. and more to come. just recently the fda approved what's known as "emergency contrtion." robert hatcher: the morning after pill, which is really an inappropriate name because it's a number of pills that you have to take and you can take it for more than just the morning after. you can take it for three days. so post coital contraception is a better term. if your condom breaks or you have too much to drink and you don't use a contraceptive, what next? well you go to plan "b" and plan "b" is this post coital contraceptive. the question is often asked, "why aren't there more contraceptive optis for men?" robert hatcher: i point out that in 1899, we had vasectomy.
the first vasectomy was done 1893. and we had condoms which were latex. condoms were produced almost immediately after goodyear figured out how to vulcanize rubber in the 1840's. i think those two methods are remarkable methods, and yet they're not used extensively. the basic problems in the delivery of birth control services are status of women issues. popes and politicians and presidents and physicians, usually men, have controlled the reproductive destiny of women for all too long, and this must stop. if it doesn't stop, these wonderful contraceptives that we have won't be used in atlanta and in amman, jordan, and in nairobi. they won't be used because men will stop women from making decisions about their own fertility. and they do it in a hundred different ways.
in many parts of the world, educating women about their options is part of an effort to improve women's health and to control overpopulation. robert hatcher: there's no doubt that overpopulation affects the health of entire communities in terms of water, air, crowding. it affects individual families in terms of their economics. it affects theealth of there's no doubt about unintended pregnancies, large families in many areas kill women so they're not able to raise their children. david bennett: i find it's less of a problem in terms of interference from religious organizations. it's often people who want to deny the fact that we are sexual human beings, and have sexual relations often without much forethought,
sometimes with people that we only-- we know only casually, and sometimes with multiple partners. that's what the real risk is. and if we deny that, then it's difficult or impossible to mount effective programs. so if we can break through those barriers, have people admit the difficulties, it's much less the religious principles that are a problem, and often the sort of cultural and social barriers that are the most difficult to overcome. the education that is offered to the women of these villages, and to the teenagers at project cradle, goes beyond preventing unwanted pregnancies. it also includes precautions against sexually transmitted diseases. jane davis: a lot of these young women, because they have multiple sexual partners, a lot of them are prostitutes. we have a very high prevalence of sexually transmitted diseases in our patients.
we also have a lot of patients who are drug abusers and we see the problems inherent with that. hepatitis, we've had some hiv positive patients in our clinic. life changed when the dangers of hiv were introduced to our society. no longer could a casual sexual encounter be categorized as "no big deal." david bennett: the major problem that we have with this virus is the fact that it remains latent for so long, that people don't realize that they have the infection but will transmit it, of course, through sexual activity, or women will transmit it to their newborn children or if the blood is not screened if somebody donates blood then hiv can be transmitted through blood. many people believe that they are not at risk for hiv because they don't fit the stereotyped high-risk population.
alexandra levine: at the beginning of the epidemic, it was almost unheard of for a woman to have this disease. at this point in the range of 25% of patients with aids are women and women are the fastest rising new group of hiv aids in the country and probably in the world as well. the first stories we all heard in this country about aids said that it was in white, gay males in california. it said it so often and so much that we believed it and because we believed it, it lulled the rest of us into this comfortable state of denial about our own risk. i had white, gay friends in atlanta who said, "oh yeah, girl, i meet all the other criterias, but i haven't done anybody in california." so even in the white, gay male community that was outside of california, we were led to believe we weren't at risk.
what a joke. at the beginning of the epidemic, hiv was seen primarily in gay men and in injection drug users. i think that was a-- just a happenstance, an accident if you will. it's a disease that's spread by sexual roots in any direction, man to man, man to woman, woman to man, so it's a sexually transmitted disease. the only known means of preventing hiv transmission through sexual contact is by using condoms. alexandra levine: if you don't know that your partner is monogamous and if you don't really know that partner, then the-- you must, you must be protected in any sexual encounter. that means condoms. condoms are very, very effective in decreasing the spread of hiv. it's not 100%. condoms are not 100% effective in preventing pregnancy. they are not 100% effective in preventing hiv.
but they make a tremendous difference, highly, highly likely to decrease the chance of transmission. now when we talked about condom negotiations with anybody, male or female, you certainly don't start out there. you start out by saying, you know, you have to feel good about yourself first. you must understand the importance of you. you must understand that for once you can be selfish, and self-centered about your life. when two people engage in sex, it's two people engaging in it. you have the right to protect yourself. now you can't just go in a workshop and tell somebody, okay, and you go home and put some gels on and make it fun. it's nothing fun about condom negotiation. nothing. it is work. and it is a skill and you've got to be prepared for all the negative you're going to hear from your partner on both sides. i have men who say, "when i introduce a condom the woman feels, 'oh, you think i have something.
i mean, what's up with you? you think i have a disease.'" so the answers to all that-- "no, i care about life. i want us to be here for the long haul." we also need to engage young females and males very early on so it becomes a part of their normal-- this is how we have sex, protectedly. we either don't have sex, which is wonderful, or if we're ever going to think about it, we do it protectedly, we do it with protection. individual teenagers-- my children, the adolescents who became sexually active this year-- take their cue about the importance of the aids problem by how much they see on tv. many people have said to me, "well aids is not much of a problem anymore." but they really haven't been to the intensive care units of the city hospitals, of people who are still dying of the disease. they haven't been in the doctor's offices of the people who are suffering from resistant strains who are now starting to see the end.
and they certainly haven't been to the developing countries where the virus is running rampant. in africa, aids is already having an enormous impact. as i said earlier, it's already surpassed malaria as the number one killer. in addition to that it's killing young people, often uryoung pele in wm the county hainvest lot, in terms of education. and so in that respect, it's been very costly. it's also costly socially in ter of leing-- leaving a large number of children without both parents. and all indications are that its impact is going to get worse, maybe a lot worse. it's likely also that it's going to get much worse that it already is in some parts of asia. other sexually transmitted diseases may have taken a backseat to headlines about hiv, but they still take their toll. david bennett: we estimate, you know, 250 million, 300 million cases of sexually transmitted diseases worldwide.
that puts it up there with the sort of commonest infections and certainly i think that the rate of infection is going up, be that with gonorrhea, in many countries with syphillis, but probably even more important now with organisms like chlamydia, which we are just coming to understand are very common. robert hatcher: sex is a big, big deal. it's not a little deal. there are four "h" viruses. you get them, you got them for life. herpes, human papilloma virus, hiv and hepatitis b virus. like hiv, hepatitis b is transmitted through blood and other types of body fluids. stephen ostroff: it could be sexually transmitted and it could also be transmitted through sharing needles through intravenous drug abuse. it can be transmitted vertically through mother to child, either during birth or immediately after birth. and one of the things that we know about hepatitis b
is that in a certain proportion of cases when people get hepatitis b infections, it becomes a chronic infection. it doesn't go away. and that chronic can be a totally silent infection. it can be a very mild form of hepatitis, or it can be a very severe form of hepatitis that's quite progressive and leads to cirrhosis. we also know that if the infection occurs peri-natally, around the time of birth, that the likelihood of developing a chronic infection is much, much higher. some of these chronic infections will also lead to liver cancer, and so the burden is quite significant. another std that affects newborns is chlamydia. jane davis: we have a fairly high prevalence of chlamydia in the clinic and most of that is probably because of the young age of our patient population. chlamydia is a quite common std in adolescence.
chlamydia by itself, does not really pose a problem to the pregnancy vis-a-vis looking at pre-term labor, premature rupture of membranes, but it can cause some problems with the neonate, the newborn. it can cause a fairly significant conjunctivitis. in fact, it's one of the leading causes of blindness in this world, chlamydia conjunctivitis. at delivery they instill drops, antibiotic drops into the infant's eyes, so we don't see that much anymore. but the other problem that we see with chlamydia is a pretty bad pneumonia that newborns can get. despite the progress that medical science has made, diseases like syphillis and gonorrhea are still on the attack. women infected with gonorrhea are at particular risk
for pelvic inflammatory disease. robert hatcher: pelvic inflammatory disease is not an equal opportunity disease. it causes infertilely, chronic pain, hysterectomies for women, no comparable pathology for a man. so if a man tells a woman "but i love you so much, i mean, i'm taking my chances. you take your chances." you just tell that man that the risks are not the same. we can be encouraged that there have been some declines in gonorrhea, but gonorrhea rates are highest in the united states among industrialized countries. so what does all this mean to us personally? alexandra levine: maybe we have to think in a society a little bit differently about sexual behaviors. there was a time in the '60's where life changed and behaviors that were very common in the 1940's or 1950's went away. maybe you got to think about that a little bit.
is it necessary to have sex with somebody that you don't really know? and we better look at that in a very careful way as a society. that's hard to do, but that's the real issue. who is that partner? how important is he to you? because the fact of the matter is, in a biologic sense, you can't be intimate with so many people and get away with it. but you know, you do have this ability to avoid the negative consequences of your sexuality. you can start from this day on, no matter where you've been. don't forget-- forget the past. don't worry about it. the past is the past. but, from this day on, you have the ability to choose a pattern of sexual intercourse that's going to protect you and the person you're with.
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narrator: the fusion of a sperm cell and an egg. smaller than the head of a pin-- and yet within this tiny embryo, only a few gestational hours old, is the genetic blueprint that will direct the t of a new human being.
every cell of the human body, skin, brain, heart, lung, and liver carries 23 pairs of chromosomes. and the chemical substance within each chromosome, the dna, contains hundreds, sometimes thousands of different genes, depending on the size of the chromosome. it is the combination of these genes that makes each of us unique. edward mccabe: genes are like beads on a string. those strings are then pay into the chromosomes, and we inherit one set of chromosomes from our father, one set of chromosomes from our mother. genes direct the formation of tissues and organs, hold instructions for all the chemical reactions that occur in the cells, and play a crucial role in determining our health and how long we live. in terms of appearance,
a lot of how we look is in our genes. all we need to do is to look at two identical twins to realize how genes are important for our hair color and our eye color and the shape of our nose and the shape of our mouth, how we carry our fat, how tall we are, how short we are, the shape of our bodies. all of these are controlled-- about 90 or 95% by our genes. when we start talking about internal things, your personality, who you are, whether you're a nice person or a not so nice person, whether you have a good sense of humor or are rather dour-- then genes are also important, but to a lesser extent. clearly these aspects of our personality are more up to ourselves, more up to chance, and more up to the environment that we're brought up in. so there's really a sort of a gradient of how important genes are. paulchugh: genes are just dna. they aren't destiny. some aspect of our life experience, what we choose and what we do, how we form our character given our constitution, is what ultimately makes us the kinds of people we are.
the idea that somehow or another we're destined because of genes to be a particular kind of person is-- is not only not true in human life, but it's also, of course, not true in anything in life. occasionally, a chemical error in a gene can alter the body's biochemistry and cause someone to be born with an inherited disease, a physical or mental abnormality, or susceptibility to a disease. this was one reason the human genome project was launched in the early 1990's. edward mccabe: the goal was to sequence the enre set ohuman genesct and alof the material. there's a lot of material on these chromosomes, in-between the beads on the string, there's a lot of information that we don't understand yet that appears perhaps to be junk, though i think many of us are reluctant to really call it junk. the goal is to sequence all of that and so that we'll--
we'll really be able to quickly identify genes and quickly be able to identify mutations. it's impressive to me that when i started identifying our first gene in my laboratory, it took us seven years and many, many people. now i can have a graduate student do it in an eight to 10 week quarter, and do most of it off the computer. we refer to it as cyber cloning. harold varmus: now we have the tools that allow us to look at the entire genetic blueprint, look at everything that individuals inherit to undstand at least the genetic contribution of their function. obviously environment also contributes to function and disease, but knowing what genes are inherited by any organism is essential to a full understanding of how they operate, and how they misfunction when disease occurs. there will still be some so-called finishing work to do over the next couple of years to get all the pieces together, and fill in the gaps, and then-- then the real work begins.
brian henderson: we then have, if you will, the periodic table of the human species. that's it. it's a big number, 300,000 or 400,000 total variants. but that's it. there aren't anymore. so every trait-- intelligence, height, weight, behavior... tendency towards addiction, tendency towards violence-- everything is determined by one or more of those genes and their variants. now once you know them all, what are you going to do with that information? one answer to that question can be found in this laboratory. wayne grody: the human genome project has revealed an increasing number of genes as the cause of genetic diseases. and once we have a gene in hand, we then, in quite short order, usually will have a gene test for it, a dna test which a lab like mine can offer.
most of the genetic testing we've done up to recently has been diagnostic, where a patient comes in with symptoms and we just do the dna test to try to pin down the precise name of the disorder they have. but now we have genes for late onset adult disorders such as familial cancers, neurologic diseases such as huntington's disease, where we can actually find the mutation and know that the patient is going to get the disease years or decades before the first symptom. the extraordinary advances that have occurred in diagnosing inherited disorders have also generated a host of complex, social and ethical questions. harold varmus: i see at least two major issues in the usage of genetic information. one will be to develop the rules for risk assessment so we can tell individuals, here are the diseases for which you at a highest risk based on your genetic profile. the reason that's important
is that that will be an inspiration to behavioral modification whh is currently difficult to achie. now hand in hand with the challenge of using getic infoation comes a societal challenge for all of us. and that is to insure that we protect people's privacy, and that we protect them against the discrimination that may, that's likely to occur during their-- their efforts to obtain insurance and to obtain employment. even at a personal level, how many people really want to know what the future has in store? that's devastating news to get. it's a death sentence to get a positive result. i, myself, would not want to go through testing at this time because there's nothing that i would do differently with my life. if you get a positive diagnosis then suddenly it can become a focus. and if you suddenly have a bad day where you drop something, or you spill your coffee, you forget your keys, whatever, it would suddenly be like, "well this is it.
this is the beginning of what's eventually the end." and i'd rather be able to just have normal bad days and not read more into it. wayne grody: a lot of it depends on e disorder we're testing for, whether there's a treatment or not. but surprisingly, even the ones with no treatment, such as huntington's disease, about half of the patients who are at risk because one of their parents had the disorder actually would like to get the testing and do want to know. you may say why would they want to know this thing? it's so they can make certain major changes in their life plan, what kind of career they might pursue, whether or not to have children of their own, and so on. how do you think the test is going to turn out? do you think you'll be found to have the gene? not to have the gene? i think i'm going to have the gene. i think i am. but i think i could go on, you know, with other things in my life, rather than having it take up so much of my time worrying about it.
edward mccabe: at this time, we're more studying rarer diseases, getting to know how those genes work. but we're using the same technologies now to move to the more common diseases. david faxon: so you might imagine many, many years from now that you go to your doctor's office and you have your gene map done. and it shows that you have a mutation that increases your risk of heart disease. now maybe the therapy at that time is to say well, because that gene affects cholesterol, we'll put you on this cholesterol medicine now to prevent that from happening. or maybe it will be so advanced that we transfer a gene in that modifies that gene and makes it correct. the ultimate goal is that we'll understand these common disorders and be able to test for them and know that if i'm predisposed to diabetes then i need to have ongoing testing to try to anticipate, perhaps in the future even prevent, that disease or cancer or one of these other common diseases.
well, as you know the purpose of this visit is to discuss the results of your cystic fibrosis carrier screen. some couples request screening because of the family history. they're concern that th y be cris for a genetic related disease. when we're talking about recessive genetic diseas, those disorders only occur when a baby inherits two mutant genes, one from the mother and one from the father. if they just inherit one, they're just a carrier and they have no problems at all. so the issue comes up in pregnancy, should we be testing the fetus? or should we just do a carrier test on the two parents? and, in general, we prefer, if we're given enough advance notice, to do the carrier testing in the parents first. and if both members of the couple are carriers, it means that they have a risk of one in four, 25 %, to have a child affected with cystic fibrosis with each pregnancy. such tests are generally offered only to couples
who are at higher than normal risk. edward mccabe: we know, for instance, that tay-sachs disease is increased in ashkenazi jews, and in some french-canadian individuals. we know that sickle cell disease occurs in individuals that come from areas with malaria. we tend to think of it as an african-american disease, but, in fact, it can occur in individuals of greek descent, of italian descent, mid-eastern descent whose ancestors lived around the mediterranean. yeah, if both parents are carriers and then we do proceed with the prenatal diagnosis, and if the fetus is found to have the two mutations, and therefore we say, this fetus is affected. to find out if the fetus is affected, a physician collects a sample of amniotic fluid from the womb. both the fluid and the fetal cells it contains are then analyzed for biochemical
or chromosomal defects. if the fetus has the disease or will show the disease in childhood or after birth, then we have a number of options. we can do nothing, and some parents-- it's interesting-- even though at the start of the testing they say, "yes, we want this test because we don't want to have a child with this disease." once they're actually in mid-point of the pregnancy, some of them change their mind and decide they just can't go through with the tnation, and th's froth ot will choose to terminate if it's an especially bad disease with little or no effective treatment. and then in more recent years, of course, there's the option to do some kind of therapy, even in utero gene therapy. i'd say much of this is still in the realm of research. it's not something we offer routinely to the couples. in utero treatment is definitely something that's moving ahead. and i have been involved in situations where,
for instance, a child had heart failure in utero, and they werable to treat the child with digitalis or other hrt drugs. there are some surgical situations where treatment is being tried. one of the ones that looks extremely promising is neural tube defects. and there are surgeons who actually go into the womb, and then are able to close that over, in utero. normally that's done after delivery, but closing it in utero does seem to make a difference in the outcome for the nerve function for those kids below the defect. the question that concerns many ethicists is where do you draw the line? which kinds of treatment are appropriate, and which are not? harold varmus: the scientif community understand that certain kinds of genetic manipulation are already here and acceptable,
that is, introducing genes into individuals while they're alive, genes that won't be transmitted to offspring-- perfectly fine. many new vaccines are going to be based on the idea of delivering genes to individuals. those genes will be expressed and will incite an immune response. we are doing gene therapy trials in many different diseases. genes are delivered to individuals who lack certain genes. however, where most of us, at this point, draw the line is between what we call somatic or adult gene therapy and germ line gene therapy where the additional gene or new genetic information is actually placed in the chromosomes of the entire individual with the prospect of transmitting the tampered chromosome to new progeny, to offspring, to sons and daughters. alex capron: of course, as we get to this kind of genetic manipulation, we go to that question of, where do we stop?
do we stop only in correcting things that are identified as a disease? and then how do we decide and who decides what a disease is? or do we say, any change we can make including adding greater capabilities, making a person perform at the highest human level? or even going beyond that? and these would be questions that we would inevitably face as we have that greater ability. one type of genetic screening that is not burdened by such long-term, ethical considerations is newborn screening. and the theory behind that is that some disorders you want to diagnose them as soon as possible after birth in order to do some medical intervention, because if you waited longer, there would be some irreversible effects. a prime example of that is phenylketonuria or pku, which is a metabolic disorder. and this is a form of retardation that's due to a deficiency in a particular enzyme
which converts certain food stuffs into amino acids. if you're lacking that you accumulate a toxic problem, a toxic chemical that poisons the brain and causes severe mental retardation. pku was a disease that i remember from when i was a lab-- in a laboratory as a teenager, seeing kids who would come in who were autistic, who made no intelligible speech, who just rocked in the corner and hit their heads against the wall. it turns out the solution is very simple. doesn't involve gene therapy. simply involves changing the diet so that that toxic product doesn't build up. and now i see the same-- the kids with the same disease who are national merit scholars, who are doing just wonderfully and living normal, productive lives, and it's because of newborn screening and our ability to intervene early.
every state screens newborns for pku and congenital hypothroidism. after that there's great variance in what the states require. wayne grody: cystic fibrosis is one of the disorders that at least a couple of states are now doing newborn screening for. it's a bit controversial whether that one you really need to catch early, but there's some data that shows that the patients who are diagnosed early and treated early with antibiotics and extra nutrition do have better growth rates. another area that's very interesting and is moving from general pediatrics into genetics really is newborn hearing screening. if you don't use your hearing organ, your ear, that then the connections don't get made and you can't really make those connections for speech and language quite as well. but now what we're learning is that a significant percentage of those kids have genetic deafness,
and that, in fact, much of the genetic deafness is caused by a single mutation. and so that i think we're going to go from a new kind of newborn screening, which is a functional test of hearing, to then matching that up with the blood spot on which the newborn screening is done, that we could then identify, do they have one of these genetic forms? maybe there's even another kid at home who may have deafness that we hadn't picked up medically before. the ability to improve the health prospects of a child offers enormous dividends. but for some expectant parents, that possibility doesn't exist. edward mccabe: to make an informed decision, they really need to recognize that this is the risk, and whatever that risk is. and it's been very interesting to me to see how different people react. some people are not fazed at all by a child who's going to have a severe malformation,
have severe mental retardation. to them, that was just the chance they took with having any pregnancy. they're going to do the very best for that child. other families perceive a risk of 2% as being a high risk for a disease. so trying to gauge and inform people so that they can approach the issue realistically, but within their own belief and value system, is very important. woman: i assume my son's going to have this just because out of three siblings in my family, we all had it, and i'll tell my son, "i passed it on to you, too." we did take rex's blood. and we did test it, and the results of that test were that rex is negative for the mutated gene. wayne grody: not every patient with the same genetic disease,
even with the same mutation the gene for that disease will show actly thsame symptoms. tay-sachs is an example where it is uniformly a terrible disease. but there are other disorders that have a wide variability in their clinical severity. and one that's been talked about quite a bit is cystic fibrosis. it's generally not a happy disease. it's a serious lung disease and also affects other organs and tissues in the body. but whereas some patients with the disease die right in the newborn period, others will go on for an average life expectancy of 30 or 40. when a child with an abnormality is born, parents need information as well as support from the medical community. edward mccabe: my main job in those situations is to help them understand what the situation is, what the child's capabilities will be, what they may not be.
and then to help to get that child into the appropriate infant stimulation. i have seen down's syndrome change from when i was an intern and resident. those kids, we just put them into institutions. we didn't have expectations and they ended up significantly retarded, sometimes severely retarded. we rarely see kids that retarded from down's syndrome these days because infant stimulation has a major effect. so i believe it's very important to work with the family. there's so many families with these diseases that just become such champions for their kids. in fact, it was just such a family, the merten family, that influenced the direction of dr. mccabe's professional career. back in 1976, when i was a fellow at the university of colorado
and was asked by dr. marianne guggenheim, a pediatric neurologist, if we would see these two brothers who were on the clinical research center in the pediatric unit, she said, "must be genetic. they look the same. they've got the same neurological problems." chris had gotten real ill, and they didn't know why. they thought maybe he'd been, you know, abused and stuff. so we brought him to-- to the hospital and she took a look at the little one-- wasn't walking. she said there's something wrong. only 2 and 3 years old, scotty and chris were short, physically weak, and severely retarded with iq's in the 30's. they had triangular, elfin fas, crossed eyes, and sweet diositions those were the first two brothers with this contiguous gene syndrome that i've spent my whole career studying, as mccabe and his associates were to learn,
christopher and scotty had a rare combination of three genetic disorders. but at first their condition was a puzzle. it was not a trivial situation because they had been accused of child abuse. we now recognize that part of that disease is having thin bones, osteoporosis. he was at a babysitter's and he had broken his femurs, and i think that's why we were accused that somebody beat him. and he wasn't. it was just real brittle bones. edward mccabe: i worked very hard to expunge that history from the record. took me about three years. and they carried a letter with them from me in case anything happened. the first clue to the genetic basis for the boys' condition came when the team analyzed their urine and found a high concentration of a sugar-like molecule called glycerol. edward mccabe: chris has a deletion in the gene for glycycerol kina, we found that if you are completely deleted,
if you don't make any of that gene product, any of that protein, then you will have severe disease. but if you have just a single amino acid change in an otherwise normal protein, that's where we can't predict the clinical picture from the mutation. but that missing gene alone could not explain all the boys' symptoms. unfortunately, one of the tragic things in my career was that we didn't recognize the adrenal problem-- the ability or inability of these kids to tolerate stress, until after the youngest of the two brothers died following surgery. karen merten: his eyes were crossed and the doctors felt, well let's see if we can help that. and they said that was routine, and then he got the flu when he got home, and he died a couple of days later. edward mccabe: the boy died at home. he'd been discharged from the hospital.
we had to get the body transferred across county lines and all of those things. but the family worked with us very hard, knowing the importance of this, not only to their surviving son, but also to-- to other children. as they looked back, other members of the family may also have had the same condition. karen merten: my little brother could have had this, yeah. they thought it was cp, and then-- that's what they wrote it down as, because they didn't know. nine months later, the older boy was sick with the same sort of thing. karen merten: his skin started to get rubbery. so i called dr. mccabe, and they met us with just-- as soon as we got there, they took him back, and brought him back in ten minutes. they almost lost him. they were afraid that he might die if it wasn't taken care of. and it was then that we made the diagnosis. what they learned was that chris
also suffered from a form of addison's disease. edward mccabe: when we're under stress, when we have an infection, a part of our brain knows to put out a hormone that stimulates the adrenal cortex to make steroids. chris doesn't have a normal adrenal cortex, so his mother has to become that regulatory instrument for him that is normally handled without us ever knowing about it. when he gets-- starts throwing up, we don't wait till he gets real bad. i usually up his dose and then wait an hour, and if he still keeps throwing up, give him a shot and then bring him right in. chris and his parents still keep in touch with dr. mccabe, as part of ongoing research, but also because of the close bond that has grown between them. edward mccabe: and every time i see him now as a man, i have to remember that, he's been growing while i've been away from him. but he really enjoys what he's doing.
he's got interests. he loves playing pool, going bowling, doing lots of things out in the community. and the community that they live in, adams county, is really very supportive of chris and provides him with ways that he can interact with other individuals and have a good social life. i know a lot of parents who hide their kids in closets, and i just-- don't do that. even the worst retarded kids need to get out and feel the air. just be aware of what's out there. look in to it, don't shelter these kids. that is the worst thing you can do-- is shelter these kids. they need to get out and explore. - fish. - they have fish? - is it we - it's wet.
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